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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2176 - 2200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0070132	autosomal recessive cutis laxa type IIIA Aliases: ARCL3A De Barsy syndrome A	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:2732	Rothmund-Thomson syndrome Aliases: Congenital poikiloderma RTS	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0070130	autosomal dominant cutis laxa 1 Aliases: ADCL1	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0070138	autosomal recessive cutis laxa type IIIB Aliases: ARCL3B De Barsy syndrome B	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0070136	autosomal dominant cutis laxa 2 Aliases: ADCL2	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:11193	syndactyly Aliases: symphalangism symphalangy webbing of digits	ACSL3 B3GLCT CHSY1 FIG4 MAN1B1 MMUT PIK3CA PTDSS1	11253 145173 2181 22856 4594 5290 9791 9896	Homo sapiens (human)
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	ACADVL ACE CAT CYP21A2 HADHA MAN1B1 OTOA SERPINA12 UGGT1	11253 145264 146183 1589 1636 3030 37 56886 847	Homo sapiens (human)
DOID:0060810	syndromic X-linked intellectual disability type 10 Aliases: HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome mental retardation, X-linked syndromic 10	ACADSB ACAT2 ALG13 ARSA B3GALNT2 CACNA2D2 DHCR7 GM2A LMAN2L MAN1B1 MBOAT7 MECR MYORG NDST1 NGLY1 PGAP1 PIGC PLA2G6 PRNP PSAP SMUG1 ST3GAL3 TECR TUSC3	11253 148789 1717 23583 2760 3340 36 39 410 51102 5279 55768 5621 5660 57462 6487 79143 79868 7991 80055 81562 8398 9254 9524	Homo sapiens (human)
DOID:12859	choreatic disease Aliases: chorea hereditary chorea	ACAT2 ALG13 ARSA B3GALNT2 CACNA2D2 GM2A LMAN2L MAN1B1 MBOAT7 MECR MYORG NDST1 NGLY1 PGAP1 PIGC PLA2G6 PRNP PSAP SMUG1 ST3GAL3 TECR TUSC3	11253 148789 23583 2760 3340 39 410 51102 5279 55768 5621 5660 57462 6487 79143 79868 7991 80055 81562 8398 9254 9524	Homo sapiens (human)
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	DHCR7 MAN1B1 PAFAH1B1 SMUG1 TMTC3	11253 160418 1717 23583 5048	Homo sapiens (human)
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	ATP6AP1 ATP6V1A B3GAT3 CHST3 FKTN MAG MAN1B1 PGAP2 PGAP3 PIGL PIGO PIGT PIGV PIGW PIGY POMT2 RPE SLC35A2 SLC39A8	11253 2218 26229 27315 284098 29954 4099 51604 523 537 55650 6120 64116 7355 84720 84992 93210 9469 9487	Homo sapiens (human)
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	ALG2 COG1 COG4 COG8 MAN1B1 SLC39A8	11253 25839 64116 84342 85365 9382	Homo sapiens (human)
DOID:0050889	non-syndromic intellectual disability	MAN1B1 TECR	11253 9524	Homo sapiens (human)
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	MAN1B1	11253	Homo sapiens (human)
DOID:12679	nephrocalcinosis	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:2485	phosphorus metabolism disease Aliases: Phosphorus disorder disorder of phosphorus metabolism phosphorus metabolism disorder	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:12678	hypercalcemia	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	AGXT ALPL ALPP ATRNL1 CD44 CYP24A1 CYP27B1 CYP2R1 ENPP1 GALNT3 GPX1 GRHPR HOGA1 HSD11B2 KL OCRL PIGT PTGS2 SLC3A1 SLC5A1 STS	112817 120227 1591 1594 189 249 250 2591 26033 2876 3291 412 4952 51604 5167 5743 6519 6523 9365 9380 960	Homo sapiens (human)
DOID:10575	calcium metabolism disease	AGXT ALPL ALPP ATRNL1 CD44 CYP24A1 CYP27B1 CYP2R1 ENPP1 GALNT3 GRHPR HOGA1 HSD11B2 KL OCRL PIGT PTGS2 SLC3A1 SLC5A1 STS	112817 120227 1591 1594 189 249 250 2591 26033 3291 412 4952 51604 5167 5743 6519 6523 9365 9380 960	Homo sapiens (human)
DOID:2977	primary hyperoxaluria	AGXT APRT CRYL1 GLYCTK GRHPR H6PD HAO1 HAO2 HOGA1 SMUG1 SULT1E1 UGDH	112817 132158 189 23583 353 51084 51179 54363 6783 7358 9380 9563	Homo sapiens (human)
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)
DOID:0050861	colorectal adenocarcinoma	BRAF CD44 CYP24A1 CYP4F8 GSK3B TP53 TPST1	11283 1591 2932 673 7157 8460 960	Homo sapiens (human)
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)
DOID:11996	spermatic cord torsion Aliases: Torsion of testicle Torsion of testis testicular Torsion	ACOT7 B4GALT7 GPX3 HSPG2 SMUG1	11285 11332 23583 2878 3339	Homo sapiens (human)

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